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Inherited disorders; do most patients or their families believe that these disorders can be prevented, treated, or cured? Helman (2007) describes how inherited disorders are diagnosed, “Diagnosis of inherited genetic disorders is by genetic screening, carried out in specialized clinics or hospitals.” (p. 365) Understanding first how an inherited genetic disorder is diagnosed is the gate way to understanding what it is. When looking at inherited genetic disorders one must look at the individual with the specific gene being passed down. Yet with inherited genetic disorders these individuals are connected to their family, others who like them carry the specific gene that is being passed down. Helman (2007) explains this as folk genetics “All human groups have ways of defining their own identity, and differentiating themselves from others. These define who is kin, and who is not; who is ‘one of us’ and who is not.” (p. 358)

Prevention can include avoiding consanguinity, which is defined by Helman (2007) “Many genetic disorders arise as a result of consanguinity; that is, from relationships between individuals closely related to one another.” (p.363) There also ways to prevent the child from ever having a chance to have the gene passed down, one way is called Oocyte donation, described by Smeets, Sallevet, Dreesen, et al. (2015) “The use of donor oocytes fertilized with sperm of the partner can prevent the transmission of mtDNA disease, but the child resulting from oocyte donation is genetically related only to the father and not to the mother.” (p. 31) The woman who carries the child will be recognized as its legal mother, but the child will not have the inherited disorder. Another method described by the same Smeets, Sallevet, Dreesen, et al. (2015) called preimplantation genetic diagnosis, which is the procedure that is described in the following, “Preimplantation genetic diagnosis (PGD) can be offered to select unaffected embryos generated by in vitro fertilization (IVF). Two blastomeres are dissected from, usually, an eight-cell embryo and tested for the genetic defect. Unaffected embryos are transferred into the uterus.” (p. 32) These preventive measures will insure that the child coming into the world will not have the inherited genetic disorder.

Treatment for patients with inherited diseases differs with each disease. Siddiq, Wilson, Graham, et al. (2016) Looks at patients, mostly minors with Inherited metabolic disorder, IMD, “The daily management of their child's IMD was described by many caregivers as intense, due to the need for the child (and sometimes the entire family) to learn to adhere to very restricted diets and treatment regimens.” (p. 3) Some disorders every member in the family does not have, therefore they must learn how to care for the person who is different and has the inherited disorder.

Cures, when looking at diseases such as Huntington’s disease, Helman (2007) “Because of its progressive and incurable nature, it may also take individuals years, or even decades, to decide to have the screening test, and some people at risk refuse to take the test in the first place.” (p.366) When watching a family member, most likely mother or father, go through something so degenerative and slowly losing them, a patient may become fearful or be in denial. Fear of it happening to them, or even in denial that it can happen to them, due to there being no cure. This means there is nothing to stop this disorder from happening and dying whichever way it takes you. Would you pay to have your eggs altered to avoid an inherited genetic disorder? Is there a cure for this disorder? Would the cure change your mind about the alterations of the embryo?

Helman (2007) Culture Health and Illness: 5th edition. Hodder Education, London UK

Siddiq, S., Wilson, B. J., Graham, I. D., Lamoureux, M., Khangura, S. D., Tingley, K., & ... Siriwardena, K. (2016). Experiences of caregivers of children with inherited metabolic diseases: a qualitative study. Orphanet Journal Of Rare Diseases, 111-10. doi:10.1186/s13023-016-0548-2

Smeets, H. M., Sallevelt, S. H., Dreesen, J. M., de Die-Smulders, C. M., & de Coo, I. F. (2015). Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis. Annals Of The New York Academy Of Sciences, 135029-36. doi:10.1111/nyas.12866